Pentalogía de Cantrell en el primer gemelo de un embarazo gemelar monocigótico: presentación de un caso y revisión de la literatura by Harry Pachajoa

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Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome by Diana Marcela Vasquez-Forero, Diana Marcela Vasquez-Forero, Barbara Masotto, Rosario Ferrer-Avargues, Christian Martin Moya, Harry Pachajoa, Harry Pachajoa, Harry Pachajoa

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2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report by Sebastian Giraldo-Ocampo, Harry Pachajoa

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Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A by Natalia Diaz-Lombana, Lorena Diaz-Ordoñez, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Juan David Gutierrez-Medina, Harry Pachajoa, Harry Pachajoa, Harry Pachajoa

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Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman by Harry Pachajoa, Harry Pachajoa, Diana Marcela Vasquez-Forero, Diana Marcela Vasquez-Forero, Sebastian Giraldo-Ocampo

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Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy by Vania A Villota, Julian Delgado, Harry Pachajoa

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Teratogenic effect of cadmium: From the developing embryo to the fetus by Juan Sebastián Calle, Harry Pachajoa, Jose Charry, Robinson Pachecho

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2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report by Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, Pablo Lapunzina, Harry Pachajoa

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Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers–Danlos syndrome by Valeria Valencia-Cifuentes, Valeria Valencia-Cifuentes, Stiven Ernesto Sinisterra-Díaz, Stiven Ernesto Sinisterra-Díaz, Valentina Quintana-Peña, Valentina Quintana-Peña, Edgar Folleco, Edgar Folleco, José A. Nastasi-Catanese, José A. Nastasi-Catanese, Harry Pachajoa, Harry Pachajoa, Harry Pachajoa, Juan P. Fernández-Cubillos, Juan P. Fernández-Cubillos

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Experiencia de una clínica de inmunodeficiencias primarias en un centro de atención nivel IV en Cali, Colombia by Manuela Olaya-Hernández, Jaime Patiño, Diego Medina, Harry Pachajoa, Viviana Lotero, Paola Pérez

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Factores psicosociales que influyen en la relación médico paciente en la consulta de genética clínica. by Diana Marcela Ortiz Quiroga, Stephan Jalisi, Ximena Castro Sardi, Yoseth Ariza Araújo, Harry Pachajoa

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Neurozika, de las ciencias básicas a la práctica clínica. Revisión de la literatura by Harry Pachajoa, Yuri Takeuchi Tan, Andres Zea, Estephania Candelo, Valeria Valencia, Juan Contreras, Akemi Arango

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Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review by Lorena Diaz-Ordoñez, Estephania Candelo, Katherine Silva-Cuero, Wilmar Saldarriaga, Lenka Murgašová, Martin Magner, Harry Pachajoa

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P360: Genotype-phenotype characterization of channelopathies in pediatric patients at a high-complexity hospital in Cali, Colombia, from 2015-2023 by Stiven Sinisterra, Diana Marcela Vasquez Forero, Luis Prieto Valdes, Santiago Cruz Zamorano, Jaime Valderrama Chaparro, Harry Pachajoa

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Aspectos genéticos e imagenológicos de la enfermedad quística renal en pediatría: serie de casos by Rafael Adrián Pacheco-Orozco, Jessica María Forero-Delgadillo, Vanessa Ochoa, Juan Sebastián Toro, Harry Pachajoa, Jaime Manuel Restrepo

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FLNC Associada a Cardiomiopatia Restritiva e Hipertrabeculação, uma Associação Rara by Ana M. Aristizabal, Carlos Alberto Guzmán-Serrano, María Isabel Lizcano, Walter Mosquera, Juliana Lores, Harry Pachajoa, Cesar Cely

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P863: Colombian Pacific genetics initiative: A project for the diagnosis and research of genetics rare disease by Stiven Sinisterra, Harry Pachajoa, Eidith Gómez, Luis Prieto Valdes, Eliana Manzi-Tarapues, Estephania Candelo, Lorena Diaz, Paola Duque

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Systemic Bevacizumab for Recurrent Respiratory Papillomatosis: A Scoping Review from 2009 to 2022 by Laura Torres-Canchala, Daniela Cleves-Luna, Oriana Arias-Valderrama, Estephania Candelo, María Angelica Guerra, Harry Pachajoa, Manuela Olaya

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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis by Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa

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Un enemigo oculto: tratando de entender el síndrome hemofagocítico en niños menores de 5 años en una institución de alta complejidad del suroccidente de Colombia by Sofía Martínez, Jacobo Triviño, Oriana Arias, Diego Medina, Alexis Franco, Jaime Patiño, Paola Pérez, Harry Pachajoa, Pamela Rodríguez, Manuela Olaya-Hernández

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